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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Authors

  • S. Donkervoort,

    1. Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
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  • J. Dastgir,

    1. Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
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  • Y. Hu,

    1. Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
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  • W.M. Zein,

    1. Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, National Eye Institute, Bethesda, MD, USA
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  • H. Marks,

    1. The Center for Neurological and Neurodevelopmental Health, Gibbsboro, NJ, USA
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  • C. Blackstone,

    1. Neurogenetics Branch, Cell Biology Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
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  • C.G. Bönnemann

    Corresponding author
    1. Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
    • Correspondence:

      Carsten G. Bönnemann, MD Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Center, 35 Convent Drive (Bldg 35), Room 2A-116, Bethesda, MD 20892-3705, USA

      Tel.: +1 301 594 5496

      fax: +1 301 480 3365

      e-mail: carsten.bonnemann@nih.gov

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No abstract is available for this article.

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